Clinical symptoms and molecular biology research in a family with oculopharyngeal muscular dystrophy

Abstract

Objective To investigate the clinical symptoms and molecular biological characteristics in a family with oculopharyngeal muscular dystrophy (OPMD). Methods Clinical data of the family members were collected. Genomic DNA were isolated from peripheral blood of 6 family members including the probands for polymerase chain reaction (PCR). TA cloning followed by Sanger DNA sequencing was conducted for detecting PABPN1 gene mutations. Results The first symptom of the 4 family members in OPMD pedigree was ptosis at 50⁃years⁃old. The clinical symptoms of pharyngeal muscles involved in gradually dysphagia. Genetic testing found: the proband (Ⅱ3), the second sister of the proband (Ⅱ2), the fourth brother of the proband (Ⅱ4), and the fifth sister of the proband (Ⅱ5) had abnormal amplification of (GCN) repeat, (GCN)₁₀/(GCN)₁₃ in exon 1 of PABPN1 gene, which was identified in 4 members of the family who conducted the genetic testing. There was a dominant inheritance pattern in the lineage. The final diagnosis was OPMD, and the family was diagnosed as OPMD. Conclusions Clinical symptoms play a decisive role in the detection of the disease, thus genetic testing is the ctritical factor to the diagnosis and prevention of oculopharyngeal muscular dystrophy, which provides necessary information for choosing treatments and genetic counseling.

doi：10.3969/j.issn.1672⁃6731.2021.06.006